DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Myopathy, Centronuclear, Autosomal Dominant
0.700 GeneticVariation disease BEFREE Mutations in dynamin 2 (DNM2), an ubiquitously-expressed large GTPase, cause autosomal dominant centronuclear myopathy (DNM2-CNM) and AD Charcot-Marie-Tooth disease type 2B (DNM2-CMT2B). 17825552 2007
Myopathy, Centronuclear, Autosomal Dominant
0.700 GermlineCausalMutation disease ORPHANET Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005
Myopathy, Centronuclear, Autosomal Dominant
0.700 Biomarker disease CLINGEN Mutations in dynamin 2 cause dominant centronuclear myopathy. 16227997 2005